Linked Data
ClinVar Variation Id:
348730
dbSNP Id:
rs374615138
ExAC:
4:39217646 T / G
gnomAD v2:
4-39217646-T-G
gnomAD v3:
4-39216026-T-G
gnomAD v4:
4-39216026-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.39216026T>G , CM000666.2:g.39216026T>G | GRCh38 |
| NC_000004.11:g.39217646T>G , CM000666.1:g.39217646T>G | GRCh37 |
| NC_000004.10:g.38894041T>G | NCBI36 |
| NG_031813.1:g.38623T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399820.8:c.1134+13T>G MANE Select | ENSP00000382717.3:n.1134+13T>G | |
| ENST00000399820.7:c.1134+13T>G | ENSP00000382717.3:n.1134+13T>G | |
| ENST00000506503.1:c.1134+13T>G | ENSP00000423491.1:n.1134+13T>G | |
| ENST00000506869.5:c.*715+13T>G | ENSP00000424319.1:n.*715+13T>G | |
| ENST00000511729.5:n.41-12532T>G | ||
| ENST00000512095.5:n.132+13T>G | ||
| NM_025132.3:c.1134+13T>G | NP_079408.3:n.1134+13T>G | |
| XM_011513724.1:c.1134+13T>G | XP_011512026.1:n.1134+13T>G | |
| XM_011513725.1:c.1068+13T>G | XP_011512027.1:n.1068+13T>G | |
| XM_011513726.1:c.654+13T>G | XP_011512028.1:n.654+13T>G | |
| XM_011513727.1:c.654+13T>G | XP_011512029.1:n.654+13T>G | |
| XM_011513728.1:c.654+13T>G | XP_011512030.1:n.654+13T>G | |
| XM_011513729.1:c.1134+13T>G | XP_011512031.1:n.1134+13T>G | |
| XR_925155.1:n.1198+13T>G | ||
| NM_001317924.1:c.654+13T>G | NP_001304853.1:n.654+13T>G | |
| XM_011513725.2:c.1068+13T>G | XP_011512027.1:n.1068+13T>G | |
| XM_011513726.3:c.654+13T>G | XP_011512028.1:n.654+13T>G | |
| XM_017008501.1:c.654+13T>G | XP_016863990.1:n.654+13T>G | |
| XR_001741306.1:n.1198+13T>G | ||
| XR_001741307.1:n.1198+13T>G | ||
| XR_001741308.1:n.1198+13T>G | ||
| XR_001741309.1:n.1198+13T>G | ||
| XR_001741310.1:n.1198+13T>G | ||
| XR_001741311.2:n.1047+13T>G | ||
| XR_001741312.1:n.1198+13T>G | ||
| NM_025132.4:c.1134+13T>G MANE Select | NP_079408.3:n.1134+13T>G | |
| NM_001317924.2:c.654+13T>G | NP_001304853.1:n.654+13T>G |